Canonical Allele Identifier: CA2639314629

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947004-C-CCCCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947007_63947008insCAACCC , CM000679.2:g.63947007_63947008insCAACCC	GRCh38
NC_000017.10:g.62024367_62024368insCAACCC , CM000679.1:g.62024367_62024368insCAACCC	GRCh37
NC_000017.9:g.59378099_59378100insCAACCC	NCBI36
NG_011699.1:g.30914_30915insTTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+40_3441+41insTTGGGG MANE Select	ENSP00000396320.1:n.3441+40_3441+41insTTGGGG
ENST00000578147.5:c.3441+40_3441+41insTTGGGG	ENSP00000463963.1:n.3441+40_3441+41insTTGGGG
NM_000334.4:c.3441+40_3441+41insTTGGGG MANE Select	NP_000325.4:n.3441+40_3441+41insTTGGGG
XM_005257566.3:c.3441+40_3441+41insTTGGGG	XP_005257623.1:n.3441+40_3441+41insTTGGGG